Canonical Allele Identifier: CA435957451
Gene: PCCB HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.135980838G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261996G>C , CM000665.2:g.136261996G>C GRCh38
NC_000003.11:g.135980838G>C , CM000665.1:g.135980838G>C GRCh37
NC_000003.10:g.137463528G>C NCBI36
NG_008939.1:g.16672G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.474G>C MANE Select ENSP00000251654.4:p.Leu158=
ENST00000251654.8:c.474G>C ENSP00000251654.4:p.Leu158=
ENST00000459873.1:c.225G>C ENSP00000419293.1:p.Leu75=
ENST00000462542.5:c.341G>C
ENST00000462637.5:c.405G>C ENSP00000420391.1:p.Leu135=
ENST00000465176.5:n.436G>C
ENST00000465423.5:c.561G>C ENSP00000419263.1:p.Leu187=
ENST00000466072.5:c.474G>C ENSP00000420158.1:p.Leu158=
ENST00000468777.5:c.567G>C ENSP00000419129.1:p.Leu189=
ENST00000469217.5:c.534G>C ENSP00000419027.1:p.Leu178=
ENST00000471595.5:c.474G>C ENSP00000417549.1:p.Leu158=
ENST00000473073.1:n.431G>C
ENST00000474833.5:n.168+11438G>C
ENST00000475214.5:n.388G>C
ENST00000478469.5:c.474G>C ENSP00000420759.1:p.Leu158=
ENST00000482086.5:c.126G>C ENSP00000417253.1:p.Leu42=
ENST00000483687.5:c.417G>C ENSP00000420639.1:p.Leu139=
ENST00000484181.5:c.474G>C ENSP00000417937.1:p.Leu158=
ENST00000490504.5:c.372+5373G>C ENSP00000418307.1:n.372+5373G>C
ENST00000494742.5:c.225G>C ENSP00000418020.1:p.Leu75=
NM_000532.4:c.474G>C NP_000523.2:p.Leu158=
NM_001178014.1:c.534G>C NP_001171485.1:p.Leu178=
XM_011512873.1:c.474G>C XP_011511175.1:p.Leu158=
XM_011512873.2:c.474G>C XP_011511175.1:p.Leu158=
NM_000532.5:c.474G>C MANE Select NP_000523.2:p.Leu158=
NM_001178014.2:c.534G>C NP_001171485.1:p.Leu178=